糖原贮积病V型：一种仍未得到充分认识的疾病，缺乏明确的基因型与表型相关性。 - Suppr

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超能文献

Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.

作者信息

Ravaglia Sabrina, Gana Simone, Valente Enza Maria

机构信息

Neuromuscular Unit, IRCCS Fondazione Mondino, Pavia, Italy.

Neurogenetics Research Center, IRCCS Fondazione Mondino, Pavia, Italy.

出版信息

Pediatr Res. 2024 Jul;96(2):279-280. doi: 10.1038/s41390-024-03149-9. Epub 2024 Mar 21.

DOI:10.1038/s41390-024-03149-9

PMID:38514859

Abstract

摘要

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